Copper toxicity associated with an ATP7A-related complex phenotype

The ATP7A gene encodes a copper transporter whose mutations cause Menkes disease, occipital horn syndrome (OHS) and, less frequently,ATP7A-related distal hereditary motor neuropathy (dHMN). Here we describe a family with OHS caused by a novel mutation in theATP7A gene, including a patient with a comorbid dHMN that worsened markedly after being treated with copper histidinate.

Source: Pediatric Neurology - March 24, 2021 Category: Neurology Authors: Daniel Natera-de Benito, Abel Sola, Paulo Rego Sousa, Susana Boronat, Jessica Exp ósito-Escudero, Laura Carrera-García, Carlos Ortez, Cristina Jou, Jordi Muchart, Monica Rebollo, Judith Armstrong, Jaume Colomer, Àngels Garcia-Cazorla, Janet Hoenicka, F Tags: Short Communication Source Type: research